{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T03:16:33Z","timestamp":1777518993813,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T00:00:00Z","timestamp":1428278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ella og Kristian Nyerr\u00f8ds stiftelse for medisinsk forskning"},{"name":"University of Oslo Research Fund (UNIFOR)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a 10\u2010year\u2010old\u2010boy presenting with moderate intellectual disability (ID), impaired motor skills, hypotonia, growth delay, minor anomalies, misaligned teeth, pectus excavatum, small hands and feet, widely spaced nipples, and a 1.13\u2009Mb de novo deletion on HSA12q12 (chr12:44,830,147\u201045,964,945 bp, hg19), deleting<jats:italic>ANO6, NELL2<\/jats:italic>, and<jats:italic>DBX2<\/jats:italic>and the pseudogenes<jats:italic>PLEKHA8P1<\/jats:italic>and<jats:italic>RACGAP1P<\/jats:italic>. We suggest<jats:italic>DBX2<\/jats:italic>and<jats:italic>NELL2<\/jats:italic>as disease\u2010causing genes and their haploinsufficiency to be involved in the psychomotor delay in the patient.<jats:italic>DBX2<\/jats:italic>encodes a homeobox protein, highly expressed during neuronal development and regulating differentiation of interneurons in brain and spinal cord.<jats:italic>NELL2<\/jats:italic>is expressed in most of the central and peripheral nervous system, with highest expression in hippocampus and cerebellum, maximizing during neuronal differentiation. The deletion in our patient is the smallest in HSA12q12 reported to date, and it is included in the deletion carried by four previously reported patients. The clinical presentation of these patients points to the recurrence of the following manifestation, possibly delineating a 12q12 deletion syndrome phenotype: moderate to severe developmental\/intellectual delay, hypotonia, postnatal growth retardation, skeletal and dental anomalies, minor facial anomalies including strabismus, down slanting palpebral fissures, and large\/low\u2010set ears. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37079","type":"journal-article","created":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T14:24:03Z","timestamp":1428330243000},"page":"1890-1896","source":"Crossref","is-referenced-by-count":15,"title":["Haploinsufficiency of<i>ANO6, NELL2<\/i>and<i>DBX2<\/i>in a boy with intellectual disability and growth delay"],"prefix":"10.1002","volume":"167","author":[{"given":"Ellen \u00d8.","family":"Carlsen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital University of 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